TGM1 transglutaminase 1

Information
Symbol
TGM1
Type
protein-coding
Description
transglutaminase 1
Entrez Gene ID
7051
Genome
hg19
Position
chr14:24,718,320-24,732,383
Genome
hg38
Position
chr14:24,249,114-24,263,177
MIM
190195 OMIM
HGNC
HGNC:11777 HGNC
Ensembl
ENSG00000092295 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 310
Likely pathogenic 0 260
Benign 0 76
Likely benign 0 1,040
Conflicting classifications of pathogenicity 0 130
Uncertain significance 0 228
Ranking
ClinVar
0
0
238
1,504
66
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ARCI1
SYNONYM ICR2
SYNONYM KTG
SYNONYM LI
SYNONYM LI1
SYNONYM TGASE
SYNONYM TGK
MIM 190195 OMIM
HGNC HGNC:11777 HGNC
Ensembl ENSG00000092295 Ensembl
AllianceGenome HGNC:11777
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544573.5 hg38 chr14 24,249,208 24,263,180 13,973
ENST00000206765.11 hg38 chr14 24,249,114 24,263,177 14,064
ENST00000206765.11 hg19 chr14 24,718,320 24,732,383 14,064
ENST00000544573.5 hg19 chr14 24,718,414 24,732,386 13,973
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